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Neuroferritinopathy
Known as:
Neurodegeneration With Brain Iron Accumulation 3
, NBIA3
, Ferritin-Related Neurodegeneration
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National Institutes of Health
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Related topics
Related topics
24 relations
Abnormality of extrapyramidal motor function
Anarthria speech disorder
Autosomal dominant inheritance
Blepharospasm
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Broader (2)
Iron Metabolism Disorders
Neuroaxonal Dystrophies
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management
Niraj Kumar
,
P. Rizek
,
M. Jog
Tremor and Other Hyperkinetic Movements
2016
Corpus ID: 14143393
Background Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 (FTL1…
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Review
2013
Review
2013
Iron metabolism in the CNS: implications for neurodegenerative diseases
T. Rouault
Nature Reviews Neuroscience
2013
Corpus ID: 21302204
Abnormal accumulation of brain iron has been detected in various neurodegenerative diseases, but the contribution of iron…
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Review
2012
Review
2012
Iron dysregulation in movement disorders
P. Dušek
,
J. Jankovic
,
W. Le
Neurobiology of Disease
2012
Corpus ID: 14973338
Review
2012
Review
2012
Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging.
H. Schipper
Biochimica et Biophysica Acta
2012
Corpus ID: 43130542
Highly Cited
2008
Highly Cited
2008
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
A. McNeill
,
D. Birchall
,
+6 authors
P. Chinnery
Neurology
2008
Corpus ID: 22599816
Background: Neurodegeneration with brain iron accumulation (NBIA) defines a group of genetic disorders characterized by brain…
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Review
2007
Review
2007
Ferritin in autoimmune diseases.
G. Zandman-Goddard
,
Y. Shoenfeld
Autoimmunity Reviews
2007
Corpus ID: 22294155
Highly Cited
2006
Highly Cited
2006
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
P. Chinnery
,
D. Crompton
,
+11 authors
J. Burn
Brain : a journal of neurology
2006
Corpus ID: 85826
Neuroferritinopathy is a progressive potentially treatable adult-onset movement disorder caused by mutations in the ferritin…
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Highly Cited
2005
Highly Cited
2005
Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement
P. Maciel
,
V. Cruz
,
+9 authors
Manuela M. Santos
Neurology
2005
Corpus ID: 13351171
The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia…
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Review
2004
Review
2004
Iron, brain ageing and neurodegenerative disorders
L. Zecca
,
M. Youdim
,
P. Riederer
,
J. Connor
,
R. Crichton
Nature Reviews Neuroscience
2004
Corpus ID: 205500060
There is increasing evidence that iron is involved in the mechanisms that underlie many neurodegenerative diseases. Conditions…
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Highly Cited
2001
Highly Cited
2001
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
A. Curtis
,
C. Fey
,
+13 authors
J. Burn
Nature Genetics
2001
Corpus ID: 25483839
We describe here a previously unknown, dominantly inherited, late-onset basal ganglia disease, variably presenting with…
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